A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115551



Internal ID19265776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54233224..54240324hg38UCSC Ensembl
Outerchr19:54737100..54744200hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977361
SamplesKWS2
Known GenesLILRA6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115551
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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